New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Milachich, Tanya

doi:10.1155/2014/306505

Cited by 17 publications

(19 citation statements)

References 68 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…journals.viamedica.pl/ginekologia_polska blastomeres or cells collected from the trophectoderm of blastocysts [4]. Recently, there have been reports on the possibility of collecting material from fluid in the blastocyst cavity and blastomeres from a morula stage embryo, after decompaction [7,8].…”

Section: Materials Collection Methodsmentioning

confidence: 99%

Current methods for preimplantation genetic diagnosis

Liss¹,

Chromik²,

Szczyglińska³

et al. 2016

Ginekol Pol

View full text Add to dashboard Cite

Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used.

show abstract

Section: Materials Collection Methodsmentioning

confidence: 99%

Current methods for preimplantation genetic diagnosis

Liss¹,

Chromik²,

Szczyglińska³

et al. 2016

Ginekol Pol

View full text Add to dashboard Cite

show abstract

“…First, embryo biopsy can only be carried out at a specific time point during embryo growth. Indeed, day-3 cleaved embryos with fewer than six blastomeres are not suitable for biopsy because blastomere removal affects underdeveloped embryos (Harton et al, 2011;Milachich, 2014). Similarly, the number of biopsied cells may negatively affect the implantation potential of blastocysts with poor trophectoderm quality .…”

Section: Introductionmentioning

confidence: 99%

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

Brouillet

Martinez

Coutton

et al. 2020

Reproductive BioMedicine Online

View full text Add to dashboard Cite

Spent culture medium (SCM) represents a possible source of embryonic DNA for non-invasive preimplantation genetic testing (PGT). Before considering routine clinical use, methodologies need to be improved to increase detection of embryo DNA in SCM while preventing contamination by exogenous and maternal DNA. The identification of DNA origin (in particular, maternal versus embryonic) is necessary for improved reliability of SCM-PGT. ABSTRACTPreimplantation genetic testing (PGT) is increasingly used worldwide. It currently entails the use of invasive techniques, i.e. polar body, blastomere, trophectoderm biopsy or blastocentesis, to obtain embryonic DNA, with major technical limitations and ethical issues. Evidence suggests that invasive PGT can lead to genetic misdiagnosis in the case of embryo mosaicism, and, consequently, to the selection of affected embryos for implantation or to the destruction of healthy embryos. Recently, spent culture medium (SCM) has been proposed as an alternative source of embryonic DNA. An increasing number of studies have reported the detection of cell-free DNA in SCM and highlighted the diagnostic potential of non-invasive SCM-based PGT for assessing the genetic status of preimplantation human embryos obtained by IVF. The reliability of this approach for clinical applications, however, needs to be determined. In this systematic review, published evidence on non-invasive SCM-based PGT is presented, and its current benefits and limitations compared with invasive PGT. Then, ways of optimizing and standardizing procedures for non-invasive SCM-based PGT to prevent technical biases and to improve performance in future studies are discussed. Finally, clinical perspectives of non-invasive PGT are presented and its future applications in reproductive medicine highlighted.

show abstract

“…Presently, three methods of biopsy are in current practice, namely, polar body biopsy of oocytes, blastomere biopsy of cleavage-stage embryos, and trophectoderm (TE) biopsy of blastocysts [3,7]. Polar body biopsy, which involves removing the first and second polar bodies, is less invasive but can only be used to detect maternally derived aneuploidies or mutations [8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

“…However, blastomere biopsy can adversely affect the embryos, particularly when two cells are removed [12][13][14][15]. More recently, TE cell biopsy has been more widely adopted for PGT because it can analyze multiple cells of the trophoblast lineage, avoiding the inner mass cells (ICM), which form the fetus proper [7,12,13].…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Zhang

Wang

et al. 2016

J Assist Reprod Genet

View full text Add to dashboard Cite

Background Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT. Methods Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by highresolution next-generation sequencing (NGS). Results A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %. Conclusion This study provides further evidence that BF is a promising alternative source of DNA for PGT.

show abstract

New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Cited by 17 publications

References 68 publications

Current methods for preimplantation genetic diagnosis

Current methods for preimplantation genetic diagnosis

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Contact Info

Product

Resources

About